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A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Nov; Vol. 179 (11), pp. 2272-2276. Date of Electronic Publication: 2019 Aug 22. - Publication Year :
- 2019
-
Abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first month of life. Heterozygous point mutations or copy-number variant deletions involving FOXF1 and/or its upstream lung-specific enhancer on 16q24.1 have been identified in the vast majority of ACDMPV patients. We have previously described two unrelated families with a de novo pathogenic frameshift variant c.691&#95;698del (p.Ala231Argfs*61) in the exon 1 of FOXF1. Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.<br /> (© 2019 Wiley Periodicals, Inc.)
- Subjects :
- Comparative Genomic Hybridization
CpG Islands genetics
Enhancer Elements, Genetic
Female
Frameshift Mutation genetics
Haploinsufficiency genetics
Heterozygote
Humans
INDEL Mutation genetics
Infant
Infant, Newborn
Male
Persistent Fetal Circulation Syndrome diagnostic imaging
Persistent Fetal Circulation Syndrome pathology
Pulmonary Alveoli diagnostic imaging
Pulmonary Alveoli pathology
Pulmonary Veins diagnostic imaging
Sequence Deletion
Tandem Repeat Sequences genetics
Forkhead Transcription Factors genetics
Persistent Fetal Circulation Syndrome genetics
Pulmonary Alveoli abnormalities
Pulmonary Veins pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 179
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 31436901
- Full Text :
- https://doi.org/10.1002/ajmg.a.61338